PTPN12 (protein tyrosine phosphatase non-receptor type 12) - Rat Genome Database

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Gene: PTPN12 (protein tyrosine phosphatase non-receptor type 12) Homo sapiens
Analyze
Symbol: PTPN12
Name: protein tyrosine phosphatase non-receptor type 12
RGD ID: 1346224
HGNC Page HGNC
Description: Enables SH3 domain binding activity and protein tyrosine phosphatase activity. Involved in cellular response to epidermal growth factor stimulus; peptidyl-tyrosine dephosphorylation; and regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in cytoplasm and nucleus. Implicated in colorectal cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: protein-tyrosine phosphatase G1; PTP-PEST; PTPG1; tyrosine-protein phosphatase non-receptor type 12
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl777,537,295 - 77,640,069 (+)EnsemblGRCh38hg38GRCh38
GRCh38777,537,190 - 77,640,069 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37777,166,612 - 77,269,386 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36777,004,771 - 77,107,322 (+)NCBINCBI36hg18NCBI36
Build 34776,811,485 - 76,914,037NCBI
Celera771,867,421 - 71,970,039 (+)NCBI
Cytogenetic Map7q11.23NCBI
HuRef771,768,818 - 71,871,494 (+)NCBIHuRef
CHM1_1777,097,083 - 77,199,758 (+)NCBICHM1_1
CRA_TCAGchr7v2776,499,836 - 76,602,451 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell junction  (IEA)
cell projection  (IEA)
cytoplasm  (IBA,IEA,TAS)
cytosol  (IEA,TAS)
focal adhesion  (IEA)
nucleoplasm  (TAS)
nucleus  (IBA)
podosome  (IEA)

References

Additional References at PubMed
PMID:1472029   PMID:1932742   PMID:7509295   PMID:7520867   PMID:7929214   PMID:8349645   PMID:8454633   PMID:8626541   PMID:8887669   PMID:9135065   PMID:9285683   PMID:9422760  
PMID:9497381   PMID:9748319   PMID:9804817   PMID:9847074   PMID:9857189   PMID:9920935   PMID:10085298   PMID:10092676   PMID:10400685   PMID:10400703   PMID:10625692   PMID:10940933  
PMID:11158295   PMID:11163214   PMID:11314030   PMID:11337490   PMID:11342545   PMID:11432829   PMID:11577104   PMID:11711533   PMID:11731619   PMID:11950600   PMID:11971877   PMID:12052829  
PMID:12231407   PMID:12477932   PMID:12614164   PMID:12665801   PMID:12674328   PMID:12690205   PMID:12714323   PMID:12853948   PMID:14707117   PMID:15122254   PMID:15146197   PMID:15231748  
PMID:15489334   PMID:15588985   PMID:15831474   PMID:16964243   PMID:17081983   PMID:17130234   PMID:17329398   PMID:17608818   PMID:18029348   PMID:18559503   PMID:19167335   PMID:19380743  
PMID:19919952   PMID:20029029   PMID:20301390   PMID:20519451   PMID:21244100   PMID:21376233   PMID:21483099   PMID:21706016   PMID:21832049   PMID:21873635   PMID:21876001   PMID:22429674  
PMID:22458809   PMID:22644489   PMID:22863883   PMID:23044628   PMID:23435421   PMID:23733313   PMID:23957009   PMID:24189400   PMID:24284071   PMID:24285539   PMID:24412244   PMID:24475046  
PMID:24658140   PMID:25402006   PMID:25648896   PMID:25663493   PMID:25868976   PMID:25921289   PMID:26537073   PMID:26638075   PMID:26644181   PMID:26687479   PMID:27075395   PMID:27134172  
PMID:27432908   PMID:27634302   PMID:27880917   PMID:28065597   PMID:28514442   PMID:28675297   PMID:28842430   PMID:29117863   PMID:29278368   PMID:29467282   PMID:29634414   PMID:29742497  
PMID:29743287   PMID:30297534   PMID:30731403   PMID:30959160   PMID:31088422   PMID:31452512   PMID:31606028   PMID:31980649   PMID:32296183   PMID:32513696   PMID:32541467   PMID:33292053  
PMID:33323505   PMID:33916271   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
PTPN12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl777,537,295 - 77,640,069 (+)EnsemblGRCh38hg38GRCh38
GRCh38777,537,190 - 77,640,069 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37777,166,612 - 77,269,386 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36777,004,771 - 77,107,322 (+)NCBINCBI36hg18NCBI36
Build 34776,811,485 - 76,914,037NCBI
Celera771,867,421 - 71,970,039 (+)NCBI
Cytogenetic Map7q11.23NCBI
HuRef771,768,818 - 71,871,494 (+)NCBIHuRef
CHM1_1777,097,083 - 77,199,758 (+)NCBICHM1_1
CRA_TCAGchr7v2776,499,836 - 76,602,451 (+)NCBI
Ptpn12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39521,191,643 - 21,260,909 (-)NCBIGRCm39mm39
GRCm39 Ensembl521,191,643 - 21,260,909 (-)Ensembl
GRCm38520,986,645 - 21,055,911 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl520,986,645 - 21,055,911 (-)EnsemblGRCm38mm10GRCm38
MGSCv37520,492,463 - 20,561,615 (-)NCBIGRCm37mm9NCBIm37
MGSCv36520,498,469 - 20,567,621 (-)NCBImm8
Celera517,944,646 - 18,014,696 (-)NCBICelera
Cytogenetic Map5A3NCBI
Ptpn12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2414,020,997 - 14,092,931 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl414,021,052 - 14,092,927 (+)Ensembl
Rnor_6.0410,631,129 - 10,702,390 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl410,631,073 - 10,702,386 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0410,623,632 - 10,695,128 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.449,517,642 - 9,589,954 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.149,517,585 - 9,574,832 (+)NCBI
Celera49,582,368 - 9,654,126 (+)NCBICelera
Cytogenetic Map4q11NCBI
Ptpn12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554107,557,103 - 7,599,139 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554107,556,283 - 7,599,170 (-)NCBIChiLan1.0ChiLan1.0
PTPN12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1783,268,834 - 83,371,120 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl783,268,834 - 83,371,120 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0769,457,158 - 69,560,111 (+)NCBIMhudiblu_PPA_v0panPan3
PTPN12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11817,608,665 - 17,692,543 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1817,607,936 - 17,692,219 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1817,266,233 - 17,315,593 (+)NCBI
ROS_Cfam_1.01817,927,205 - 18,011,994 (+)NCBI
ROS_Cfam_1.0 Ensembl1817,927,265 - 18,011,993 (+)Ensembl
UMICH_Zoey_3.11817,677,847 - 17,762,567 (+)NCBI
UNSW_CanFamBas_1.01817,617,247 - 17,702,020 (+)NCBI
UU_Cfam_GSD_1.01817,886,436 - 17,971,250 (+)NCBI
Ptpn12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511859,785,782 - 59,892,793 (+)NCBI
SpeTri2.0NW_00493647920,909,557 - 21,016,562 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPN12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9102,480,922 - 102,563,905 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19102,480,914 - 102,563,969 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29112,920,939 - 112,961,308 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTPN12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12171,285,917 - 71,389,645 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2171,285,736 - 71,389,926 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604232,533,869 - 32,637,803 (+)NCBIVero_WHO_p1.0
Ptpn12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473926,747,830 - 26,828,535 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
G06466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,268,725 - 77,269,073UniSTSGRCh37
Build 36777,106,661 - 77,107,009RGDNCBI36
Celera771,969,376 - 71,969,724RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,870,831 - 71,871,179UniSTS
CRA_TCAGchr7v2776,601,788 - 76,602,136UniSTS
RH77974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,230,266 - 77,230,502UniSTSGRCh37
Build 36777,068,202 - 77,068,438RGDNCBI36
Celera771,930,905 - 71,931,141RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,832,388 - 71,832,624UniSTS
CRA_TCAGchr7v2776,563,329 - 76,563,565UniSTS
GeneMap99-GB4 RH Map7434.72UniSTS
NCBI RH Map7949.2UniSTS
D20S1000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,269,225 - 77,269,333UniSTSGRCh37
Build 36777,107,161 - 77,107,269RGDNCBI36
Celera771,969,876 - 71,969,984RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,871,331 - 71,871,439UniSTS
CRA_TCAGchr7v2776,602,288 - 76,602,396UniSTS
SHGC-105103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,195,310 - 77,195,580UniSTSGRCh37
Build 36777,033,246 - 77,033,516RGDNCBI36
Celera771,895,955 - 71,896,225RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,797,438 - 71,797,708UniSTS
CRA_TCAGchr7v2776,528,373 - 76,528,643UniSTS
TNG Radiation Hybrid Map733518.0UniSTS
GDB:1317990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,269,074 - 77,269,244UniSTSGRCh37
Build 36777,107,010 - 77,107,180RGDNCBI36
Celera771,969,725 - 71,969,895RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,871,180 - 71,871,350UniSTS
CRA_TCAGchr7v2776,602,137 - 76,602,307UniSTS
PTPN12_1837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,268,543 - 77,269,168UniSTSGRCh37
Build 36777,106,479 - 77,107,104RGDNCBI36
Celera771,969,194 - 71,969,819RGD
HuRef771,870,649 - 71,871,274UniSTS
CRA_TCAGchr7v2776,601,606 - 76,602,231UniSTS
GDB:1318038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,220,401 - 77,220,492UniSTSGRCh37
Build 36777,058,337 - 77,058,428RGDNCBI36
Celera771,921,042 - 71,921,133RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,822,523 - 71,822,614UniSTS
CRA_TCAGchr7v2776,553,464 - 76,553,555UniSTS
GDB:1317318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,245,889 - 77,246,018UniSTSGRCh37
Build 36777,083,825 - 77,083,954RGDNCBI36
Celera771,946,539 - 71,946,668RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,847,975 - 71,848,104UniSTS
CRA_TCAGchr7v2776,578,952 - 76,579,081UniSTS
GDB:1318521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,209,473 - 77,209,539UniSTSGRCh37
Build 36777,047,409 - 77,047,475RGDNCBI36
Celera771,910,116 - 71,910,182RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,811,596 - 71,811,662UniSTS
CRA_TCAGchr7v2776,542,536 - 76,542,602UniSTS
GDB:1318515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,181,108 - 77,181,302UniSTSGRCh37
Build 36777,019,044 - 77,019,238RGDNCBI36
Celera771,881,755 - 71,881,949RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,783,152 - 71,783,346UniSTS
CRA_TCAGchr7v2776,514,171 - 76,514,365UniSTS
PTPN12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,268,995 - 77,269,067UniSTSGRCh37
GRCh37777,269,005 - 77,269,284UniSTSGRCh37
Build 36777,106,931 - 77,107,003RGDNCBI36
Celera771,969,646 - 71,969,718RGD
Celera771,969,656 - 71,969,935UniSTS
Cytogenetic Map7q11.23UniSTS
HuRef771,871,101 - 71,871,173UniSTS
HuRef771,871,111 - 71,871,390UniSTS
CRA_TCAGchr7v2776,602,068 - 76,602,347UniSTS
CRA_TCAGchr7v2776,602,058 - 76,602,130UniSTS
GDB:305494  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Bhsa-miR-200b-3pMirtarbaseexternal_infoNorthern blot//qRT-PCR//Western blotFunctional MTI16762633

Predicted Target Of
Summary Value
Count of predictions:1258
Count of miRNA genes:725
Interacting mature miRNAs:817
Transcripts:ENST00000248594, ENST00000407343, ENST00000415482, ENST00000418110, ENST00000433369, ENST00000435495, ENST00000440186, ENST00000447995, ENST00000460731, ENST00000464313, ENST00000481154, ENST00000494248, ENST00000519553, ENST00000520947, ENST00000522115, ENST00000523952
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2420 2834 1597 501 1794 344 4228 2014 3527 386 1443 1602 170 1204 2661 4
Low 17 156 128 122 157 121 128 182 192 33 14 11 4 1 127 1 1
Below cutoff 2 1 14 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001131008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001131009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN395133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M93425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000248594   ⟹   ENSP00000248594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,537,295 - 77,640,069 (+)Ensembl
RefSeq Acc Id: ENST00000407343   ⟹   ENSP00000385079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,627,156 - 77,638,708 (+)Ensembl
RefSeq Acc Id: ENST00000415482   ⟹   ENSP00000392429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,538,035 - 77,639,280 (+)Ensembl
RefSeq Acc Id: ENST00000418110   ⟹   ENSP00000392526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,545,752 - 77,600,728 (+)Ensembl
RefSeq Acc Id: ENST00000433369   ⟹   ENSP00000404050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,538,029 - 77,592,256 (+)Ensembl
RefSeq Acc Id: ENST00000435495   ⟹   ENSP00000397991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,538,069 - 77,639,620 (+)Ensembl
RefSeq Acc Id: ENST00000440186   ⟹   ENSP00000413449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,571,153 - 77,585,571 (+)Ensembl
RefSeq Acc Id: ENST00000447995   ⟹   ENSP00000397364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,583,555 - 77,610,802 (+)Ensembl
RefSeq Acc Id: ENST00000460731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,537,517 - 77,583,821 (+)Ensembl
RefSeq Acc Id: ENST00000464313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,606,928 - 77,611,046 (+)Ensembl
RefSeq Acc Id: ENST00000481154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,585,149 - 77,592,381 (+)Ensembl
RefSeq Acc Id: ENST00000494248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,585,546 - 77,600,965 (+)Ensembl
RefSeq Acc Id: ENST00000519553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,636,972 - 77,638,941 (+)Ensembl
RefSeq Acc Id: ENST00000520947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,636,765 - 77,639,490 (+)Ensembl
RefSeq Acc Id: ENST00000522115   ⟹   ENSP00000430726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,571,091 - 77,610,828 (+)Ensembl
RefSeq Acc Id: ENST00000523952   ⟹   ENSP00000428735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl777,537,554 - 77,581,465 (+)Ensembl
RefSeq Acc Id: NM_001131008   ⟹   NP_001124480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,538,043 - 77,640,069 (+)NCBI
GRCh37777,166,773 - 77,269,388 (+)ENTREZGENE
HuRef771,768,818 - 71,871,494 (+)ENTREZGENE
CHM1_1777,097,662 - 77,199,758 (+)NCBI
CRA_TCAGchr7v2776,499,836 - 76,602,451 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001131009   ⟹   NP_001124481
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,538,043 - 77,640,069 (+)NCBI
GRCh37777,166,773 - 77,269,388 (+)ENTREZGENE
HuRef771,768,818 - 71,871,494 (+)ENTREZGENE
CHM1_1777,097,662 - 77,199,758 (+)NCBI
CRA_TCAGchr7v2776,499,836 - 76,602,451 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_002835   ⟹   NP_002826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,537,295 - 77,640,069 (+)NCBI
GRCh37777,166,773 - 77,269,388 (+)ENTREZGENE
GRCh37777,166,773 - 77,269,388 (+)NCBI
Build 36777,004,771 - 77,107,322 (+)NCBI Archive
HuRef771,768,818 - 71,871,494 (+)ENTREZGENE
CHM1_1777,097,083 - 77,199,758 (+)NCBI
CRA_TCAGchr7v2776,499,836 - 76,602,451 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005250518   ⟹   XP_005250575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,537,531 - 77,640,069 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716073   ⟹   XP_006716136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,537,190 - 77,640,069 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017012474   ⟹   XP_016867963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,538,034 - 77,640,069 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001744844
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,537,190 - 77,640,069 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002826   ⟸   NM_002835
- Peptide Label: isoform 1
- UniProtKB: Q05209 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124480   ⟸   NM_001131008
- Peptide Label: isoform 2
- UniProtKB: Q05209 (UniProtKB/Swiss-Prot),   B4E105 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124481   ⟸   NM_001131009
- Peptide Label: isoform 3
- UniProtKB: Q05209 (UniProtKB/Swiss-Prot),   B4E105 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250575   ⟸   XM_005250518
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006716136   ⟸   XM_006716073
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016867963   ⟸   XM_017012474
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000392429   ⟸   ENST00000415482
RefSeq Acc Id: ENSP00000413449   ⟸   ENST00000440186
RefSeq Acc Id: ENSP00000392526   ⟸   ENST00000418110
RefSeq Acc Id: ENSP00000430726   ⟸   ENST00000522115
RefSeq Acc Id: ENSP00000428735   ⟸   ENST00000523952
RefSeq Acc Id: ENSP00000248594   ⟸   ENST00000248594
RefSeq Acc Id: ENSP00000385079   ⟸   ENST00000407343
RefSeq Acc Id: ENSP00000397364   ⟸   ENST00000447995
RefSeq Acc Id: ENSP00000404050   ⟸   ENST00000433369
RefSeq Acc Id: ENSP00000397991   ⟸   ENST00000435495
Promoters
RGD ID:6806098
Promoter ID:HG_KWN:58259
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407343,   NM_001131008,   NM_001131009,   OTTHUMT00000253183,   OTTHUMT00000341574,   OTTHUMT00000341578,   OTTHUMT00000341582
Position:
Human AssemblyChrPosition (strand)Source
Build 36777,004,011 - 77,005,337 (+)MPROMDB
RGD ID:6806100
Promoter ID:HG_KWN:58261
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010LDQ.1,   UC010LDR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36777,037,586 - 77,038,086 (+)MPROMDB
RGD ID:7210893
Promoter ID:EPDNEW_H11192
Type:initiation region
Name:PTPN12_1
Description:protein tyrosine phosphatase, non-receptor type 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11193  EPDNEW_H11194  EPDNEW_H11195  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,537,190 - 77,537,250EPDNEW
RGD ID:7210895
Promoter ID:EPDNEW_H11193
Type:initiation region
Name:PTPN12_2
Description:protein tyrosine phosphatase, non-receptor type 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11192  EPDNEW_H11194  EPDNEW_H11195  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,537,303 - 77,537,363EPDNEW
RGD ID:7210897
Promoter ID:EPDNEW_H11194
Type:initiation region
Name:PTPN12_4
Description:protein tyrosine phosphatase, non-receptor type 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11192  EPDNEW_H11193  EPDNEW_H11195  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,537,518 - 77,537,578EPDNEW
RGD ID:7210899
Promoter ID:EPDNEW_H11195
Type:initiation region
Name:PTPN12_3
Description:protein tyrosine phosphatase, non-receptor type 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11192  EPDNEW_H11193  EPDNEW_H11194  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,571,188 - 77,571,248EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg) single nucleotide variant Carcinoma of colon [RCV000010055] Chr7:77571160 [GRCh38]
Chr7:77200477 [GRCh37]
Chr7:7q11.23
pathogenic|other
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11
pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1 copy number loss See cases [RCV000054153] Chr7:75496701..78375575 [GRCh38]
Chr7:75126024..78004892 [GRCh37]
Chr7:74963960..77842828 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
NM_002835.3(PTPN12):c.938T>G (p.Val313Gly) single nucleotide variant Malignant melanoma [RCV000067947]|Malignant melanoma of skin [RCV000149754] Chr7:77611045 [GRCh38]
Chr7:77240362 [GRCh37]
Chr7:77078298 [NCBI36]
Chr7:7q11.23
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3 copy number gain See cases [RCV000137450] Chr7:76440557..78180243 [GRCh38]
Chr7:76069874..77809560 [GRCh37]
Chr7:75907810..77647496 [NCBI36]
Chr7:7q11.23-21.11
uncertain significance
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11
likely pathogenic
NM_002835.3(PTPN12):c.1448C>T (p.Ser483Leu) single nucleotide variant Malignant melanoma of skin [RCV000149755] Chr7:77627127 [GRCh38]
Chr7:77256444 [GRCh37]
not provided
NM_002835.3(PTPN12):c.2314C>T (p.Pro772Ser) single nucleotide variant Malignant melanoma of skin [RCV000149756] Chr7:77639251 [GRCh38]
Chr7:77268568 [GRCh37]
not provided
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3
uncertain significance
Single allele deletion not provided [RCV000678008] Chr7:77204062..80706230 [GRCh37]
Chr7:7q11.23-21.11
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1 copy number loss not provided [RCV000746819] Chr7:75588704..80277632 [GRCh37]
Chr7:7q11.23-21.11
pathogenic
GRCh37/hg19 7q11.23(chr7:77133299-77192123)x1 copy number loss not provided [RCV001005973] Chr7:77133299..77192123 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:76784372-77199666)x3 copy number gain not provided [RCV001005972] Chr7:76784372..77199666 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23-21.11(chr7:77119381-77726101)x3 copy number gain not provided [RCV000848043] Chr7:77119381..77726101 [GRCh37]
Chr7:7q11.23-21.11
uncertain significance
NM_002835.4(PTPN12):c.1717A>G (p.Thr573Ala) single nucleotide variant not provided [RCV001618182] Chr7:77627396 [GRCh38]
Chr7:77256713 [GRCh37]
Chr7:7q11.23
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9645 AgrOrtholog
COSMIC PTPN12 COSMIC
Ensembl Genes ENSG00000127947 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000248594 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385079 UniProtKB/TrEMBL
  ENSP00000392429 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392526 UniProtKB/TrEMBL
  ENSP00000397364 UniProtKB/TrEMBL
  ENSP00000397991 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000404050 UniProtKB/TrEMBL
  ENSP00000413449 UniProtKB/TrEMBL
  ENSP00000428735 UniProtKB/TrEMBL
  ENSP00000430726 UniProtKB/TrEMBL
Ensembl Transcript ENST00000248594 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000407343 UniProtKB/TrEMBL
  ENST00000415482 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000418110 UniProtKB/TrEMBL
  ENST00000433369 UniProtKB/TrEMBL
  ENST00000435495 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000440186 UniProtKB/TrEMBL
  ENST00000447995 UniProtKB/TrEMBL
  ENST00000522115 UniProtKB/TrEMBL
  ENST00000523952 UniProtKB/TrEMBL
Gene3D-CATH 3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000127947 GTEx
HGNC ID HGNC:9645 ENTREZGENE
Human Proteome Map PTPN12 Human Proteome Map
InterPro Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ptpn_12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5782 UniProtKB/Swiss-Prot
NCBI Gene 5782 ENTREZGENE
OMIM 114500 OMIM
  600079 OMIM
Pfam Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33987 PharmGKB
PIRSF Tyr-Ptase_nr12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_PTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PTPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4E105 ENTREZGENE, UniProtKB/TrEMBL
  C9J1X8_HUMAN UniProtKB/TrEMBL
  C9JJC1_HUMAN UniProtKB/TrEMBL
  C9JYA4_HUMAN UniProtKB/TrEMBL
  F8WB51_HUMAN UniProtKB/TrEMBL
  H0YB59_HUMAN UniProtKB/TrEMBL
  H0YC15_HUMAN UniProtKB/TrEMBL
  H3BM04_HUMAN UniProtKB/TrEMBL
  PTN12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A4D1C5 UniProtKB/Swiss-Prot
  B4DKY2 UniProtKB/Swiss-Prot
  E9PBR5 UniProtKB/Swiss-Prot
  E9PEH9 UniProtKB/Swiss-Prot
  Q16130 UniProtKB/Swiss-Prot
  Q59FD6 UniProtKB/Swiss-Prot
  Q75MN8 UniProtKB/Swiss-Prot
  Q86XU4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 PTPN12  protein tyrosine phosphatase non-receptor type 12    protein tyrosine phosphatase, non-receptor type 12  Symbol and/or name change 5135510 APPROVED
2011-08-16 PTPN12  protein tyrosine phosphatase, non-receptor type 12  PTPN12  protein tyrosine phosphatase, non-receptor type 12  Symbol and/or name change 5135510 APPROVED